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Wednesday, 11/2/2026 | 12:02 GMT+7

Man with jaundice due to gene mutation

Luan, 30, experienced intermittent jaundice for 10 years and was diagnosed with Dubin-Johnson syndrome caused by a gene mutation.

Luan's episodes of jaundice were irregular and of unknown origin. Apart from the jaundice, he exhibited no other unusual symptoms, and there was no family history of congenital or hereditary liver conditions.

Doctor Huynh Van Trung, Deputy Head of Gastroenterology at the Center for Endoscopy and Gastrointestinal Endoscopic Surgery, Tam Anh General Hospital TP HCM, reported that Luan's blood bilirubin levels were elevated, primarily direct bilirubin. This type of bilirubin causes jaundice and dark urine. Despite this, indicators of liver cell damage, including AST, ALT, GGT, and overall liver function, remained within normal limits.

Screening tests for viral hepatitis, hemolysis, and autoimmune liver disease all returned negative results. Ultrasound and MRI scans revealed no indications of liver fibrosis, bile duct obstruction, or other chronic liver conditions. After eliminating common causes, doctors prescribed a gene test for Luan. The test results identified a loss-of-function mutation in both copies of the ABCC2 gene, which is crucial for the secretion of bilirubin and insoluble organic salt anions.

Doctor Trung advises Luan on health monitoring. Photo: Tam Anh General Hospital

Doctor Trung diagnosed the patient with Dubin-Johnson syndrome, a chronic disorder affecting bilirubin metabolism. This condition results in bilirubin accumulation in the blood, causing jaundice without damaging liver cells, and it does not require specific treatment. Patients generally experience intermittent jaundice, which becomes more pronounced during fatigue, infection, or stress, but it is not dangerous.

Dubin-Johnson syndrome stems from a hereditary gene mutation. Consequently, the condition often manifests early, with jaundice potentially appearing during infancy. Throughout adulthood, episodes of jaundice may recur, with varying degrees of severity. While it can affect both sexes, males tend to experience the condition more frequently and at an earlier age.

According to Doctor Trung, jaundice and yellow eyes are not exclusively indicative of liver disease. If jaundice persists while liver enzyme levels remain normal, patients should not be overly concerned. However, it is advisable to consult specialists in hepatitis and fatty liver at a medical facility for a comprehensive assessment to identify the underlying cause and determine the appropriate course of action.

Bao Tram

*Character's name has been changed

Readers can submit questions about digestive diseases here for doctors to answer.
By VnExpress: https://vnexpress.net/nguoi-dan-ong-vang-da-do-dot-bien-gene-5039821.html
Tags: jaundice TP HCM gene mutation

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